Reply to ten Kate et al

অনুযায়ী Gialluisi, Alessandro, Pippucci, Tommaso, Romeo, Giovanni
প্রকাশিত 2014

XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments

অনুযায়ী Magi, Alberto, Pippucci, Tommaso, Sidore, Carlo
প্রকাশিত BMC Genomics (2017)

Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2

অনুযায়ী D'Aurizio, Romina, Pippucci, Tommaso, Tattini, Lorenzo, Giusti, Betti, Pellegrini, Marco, Magi, Alberto
প্রকাশিত Nucleic Acids Res (2016)

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

অনুযায়ী Gialluisi, Alessandro, Incollu, Simona, Pippucci, Tommaso, Lepori, Maria Barbara, Zappu, Antonietta, Loudianos, Georgios, Romeo, Giovanni
প্রকাশিত 2013

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

অনুযায়ী Gialluisi, Alessandro, Incollu, Simona, Pippucci, Tommaso, Barbara Lepori, Maria, Zappu, Antonietta, Loudianos, Georgios, Romeo, Giovanni
প্রকাশিত 2014

AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics

অনুযায়ী Magi, Alberto, Giangregorio, Tania, Semeraro, Roberto, Carangelo, Giulia, Palombo, Flavia, Romeo, Giovanni, Seri, Marco, Pippucci, Tommaso
প্রকাশিত Comput Struct Biotechnol J (2020)

In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss

অনুযায়ী Al-Kindi, Mohammed Nasser, Al-Khabouri, Mazin Jawad, Al-Lamki, Khalsa Ahmad, Palombo, Flavia, Pippucci, Tommaso, Romeo, Giovanni, Al-Wardy, Nadia Mohammed
প্রকাশিত J Genet Eng Biotechnol (2020)

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies

অনুযায়ী Harel, Tamar, Griffin, John N, Arbogast, Thomas, Monroe, Tanner O, Palombo, Flavia, Martinelli, Marcella, Seri, Marco, Pippucci, Tommaso, Elpeleg, Orly, Katsanis, Nicholas
প্রকাশিত Hum Mol Genet (2020)

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

অনুযায়ী Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio
প্রকাশিত 2013

Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?

অনুযায়ী Guerrini, Renzo, Cavallin, Mara, Pippucci, Tommaso, Rosati, Anna, Bisulli, Francesca, Dimartino, Paola, Barba, Carmen, Garbelli, Rita, Buccoliero, Anna Maria, Tassi, Laura, Conti, Valerio
প্রকাশিত Neurol Genet (2020)

Characterization and identification of hidden rare variants in the human genome

অনুযায়ী Magi, Alberto, D’Aurizio, Romina, Palombo, Flavia, Cifola, Ingrid, Tattini, Lorenzo, Semeraro, Roberto, Pippucci, Tommaso, Giusti, Betti, Romeo, Giovanni, Abbate, Rosanna, Gensini, Gian Franco
প্রকাশিত BMC Genomics (2015)

5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

অনুযায়ী Marconi, Caterina, Canobbio, Ilaria, Bozzi, Valeria, Pippucci, Tommaso, Simonetti, Giorgia, Melazzini, Federica, Angori, Silvia, Martinelli, Giovanni, Saglio, Giuseppe, Torti, Mauro, Pastan, Ira, Seri, Marco, Pecci, Alessandro
প্রকাশিত J Hematol Oncol (2017)

Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients

অনুযায়ী Ciavarella, Michele, Miccoli, Sara, Prossomariti, Anna, Pippucci, Tommaso, Bonora, Elena, Buscherini, Francesco, Palombo, Flavia, Zuntini, Roberta, Balbi, Tiziana, Ceccarelli, Claudio, Bazzoli, Franco, Ricciardiello, Luigi, Turchetti, Daniela, Piazzi, Giulia
প্রকাশিত Eur J Hum Genet (2018)

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

অনুযায়ী Rinaldi, Berardo, Vaisfeld, Alessandro, Amarri, Sergio, Baldo, Chiara, Gobbi, Giuseppe, Magini, Pamela, Melli, Erto, Neri, Giovanni, Novara, Francesca, Pippucci, Tommaso, Rizzi, Romana, Soresina, Annarosa, Zampini, Laura, Zuffardi, Orsetta, Crimi, Marco
প্রকাশিত Orphanet J Rare Dis (2017)

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

অনুযায়ী Marconi, Caterina, Brunamonti Binello, Paolo, Badiali, Giovanni, Caci, Emanuela, Cusano, Roberto, Garibaldi, Joseph, Pippucci, Tommaso, Merlini, Alberto, Marchetti, Claudio, Rhoden, Kerry J, Galietta, Luis J V, Lalatta, Faustina, Balbi, Paolo, Seri, Marco
প্রকাশিত 2013

Epilepsy with auditory features: A heterogeneous clinico-molecular disease

অনুযায়ী Pippucci, Tommaso, Licchetta, Laura, Baldassari, Sara, Palombo, Flavia, Menghi, Veronica, D'Aurizio, Romina, Leta, Chiara, Stipa, Carlotta, Boero, Giovanni, d'Orsi, Giuseppe, Magi, Alberto, Scheffer, Ingrid, Seri, Marco, Tinuper, Paolo, Bisulli, Francesca
প্রকাশিত Neurol Genet (2015)

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

অনুযায়ী Bottega, Roberta, Marconi, Caterina, Faleschini, Michela, Baj, Gabriele, Cagioni, Claudia, Pecci, Alessandro, Pippucci, Tommaso, Ramenghi, Ugo, Pardini, Simonetta, Ngu, Loretta, Baronci, Carlo, Kunishima, Shinji, Balduini, Carlo L., Seri, Marco, Savoia, Anna, Noris, Patrizia
প্রকাশিত Blood (2015)

BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype

অনুযায়ী Zuntini, Roberta, Cortesi, Laura, Calistri, Daniele, Pippucci, Tommaso, Martelli, Pier Luigi, Casadio, Rita, Capizzi, Elisa, Santini, Donatella, Miccoli, Sara, Medici, Veronica, Danesi, Rita, Marchi, Isabella, Zampiga, Valentina, Fiorentino, Michelangelo, Ferrari, Simona, Turchetti, Daniela
প্রকাশিত Oncotarget (2017)

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

অনুযায়ী Zawerton, Ash, Yao, Baojin, Yeager, J. Paige, Pippucci, Tommaso, Haseeb, Abdul, Smith, Joshua D., Wischmann, Lisa, Kühl, Susanne J., Dean, John C.S., Pilz, Daniela T., Holder, Susan E., McNeill, Alisdair, Graziano, Claudio, Lefebvre, Véronique
প্রকাশিত Am J Hum Genet (2019)

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

অনুযায়ী Zawerton, Ash, Yao, Baojin, Yeager, J. Paige, Pippucci, Tommaso, Haseeb, Abdul, Smith, Joshua D., Wischmann, Lisa, Kühl, Susanne J., Dean, John C.S., Pilz, Daniela T., Holder, Susan E., McNeill, Alisdair, Graziano, Claudio, Lefebvre, Véronique
প্রকাশিত Am J Hum Genet (2019)